Generality
Microcephaly consists of reduced development of the skull.
Its presence may be the result of a congenital or post-natal morbid condition, or an event that affected the patient's mother during the period of pregnancy.
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Congenital morbid conditions include, for example, Down syndrome, trisomy 13 and trisomy 18; among the post-natal populations, mitochondrial diseases are instead included.
As for the events that affect the mother during pregnancy, they deserve a mention: toxoplasmosis, teratogenic drugs and alcohol abuse.
In general, microcephaly carriers have mental retardation, as they have a brain that has not completed development.
The diagnosis of microcephaly is quite simple, as it is established by simply measuring the circumference of the head.
Unfortunately, except for very rare exceptions, microcephaly is an incurable condition.
What is microcephaly?
Microcephaly is the medical term for a reduced development of the skull.
Thus, microcephalic individuals are subjects with a smaller head size - in terms of circumference - to the normality standards for a certain age group and a given sex.
In general, microcephaly is a characteristic clinical sign of some morbid conditions which, among the various consequences, also affect the normal development of the brain. Some of these morbid conditions (or circumstances) act in prenatal age - in this case the doctors talk about congenital microcephaly - while others act in the first months of life - in these situations the doctors use the term post-natal microcephaly .
IT IS A VERY PRECOCEMABLE FIND SIGN
Being of congenital nature or developable in the first months of life, microcephaly is a clinical sign that doctors can find very early: before birth, immediately after birth or during early childhood.
ORIGIN OF THE NAME
The word microcefalia derives from the union of two terms of Greek origin: "micros" (μικρός), which means "small / small", and "chefale" (κεφαλή), which means "head".
Causes
The causes of microcephaly are numerous and of a very different nature.
Among these, they deserve a particular quote:
- Chromosomal abnormalities .
They are congenital diseases, which arise due to the effect of chromosomes altered in structure or number (NB: in this regard, we remind you that human beings possess 46 human chromosomes). The characteristic congenital diseases associated with microcephaly are: Down syndrome (trisomy 21), Patau syndrome (trisomy 13), Edward syndrome (trisomy 18) and Poland syndrome.
Classification: congenital microcephaly.
- Syndromes that induce craniosynostosis .
Craniosynostosis is the term by which doctors indicate the premature fusion of one or more cranial sutures. Cranial sutures are the fibrous joints that bind together the bones of the cranial vault (ie the frontal, temporal, parietal and occipital bones).
In normal conditions, the fusion of cranial sutures occurs in the post-natal period (NB: some processes even end at the age of 20), which allows the brain to develop adequately.
If, as in the case of craniosynostosis, the fusion of the cranial sutures occurs prematurely, then the encephalon does not have enough space to grow properly.
Classification: congenital microcephaly.
- The mother's wrong behavior during pregnancy .
The fetus can develop microcephaly, if the mother, during pregnancy, uses drugs with teratogenic side effects or alcohol; or if it is exposed to certain toxic substances.
Classification: congenital microcephaly.
- Some special maternal conditions, which also have repercussions on the fetus .
These include: toxoplasma (toxoplasmosis), cytomegalovirus, rubivirus (rubella) and varicella-zoster (varicella) infections; the failure to treat phenylketonuria (a genetic disease that causes the accumulation of phenylalanine in the body); a state of severe malnutrition; and, finally, the presence of persistent hypothyroidism.
Classification: congenital microcephaly.
- Some mitochondrial diseases .
Mitochondrial diseases are a group of diseases caused by mitochondria dysfunction; mitochondria are the cellular organelles that produce most of the energy that can be used immediately by the body (ATP).
Classification: post-natal microcephaly.
- Brain trauma and stroke events (both hemorrhagic and ischemic) .
These are acquired causes.
Classification: post-natal microcephaly.
- Ischemic hypoxic encephalopathy .
Encephalopathies represent a particular group of pathologies, characterized by a structural and functional alteration of the brain.
Ischemic hypoxic encephalopathy is a permanent pathological condition that arises as a result of an inadequate influx of oxygen to the brain cells (there is talk of cerebral hypoxia, when the inflow is partial, and of cerebral anoxia, when the inflow is totally absent).
Oxygen deprivation, intended for the brain compartment, can occur at various times in life; can lead to microcephaly, if it occurs: before birth (ie during pregnancy), at the time of labor / delivery or after labor.
Classification: congenital and post-natal microcephaly.
Symptoms and Complications
Schlitzie, pseudonym of Simon Metz (1901-197) American showman and actor affected by microcephaly.
Most doctors talk about microcephaly when, from the comparison of a head with what are the average measurements for a certain age and sex, the head circumference turns out to be at least two smaller standard deviations.
The symptoms and signs that accompany microcephaly depend on which and how serious the causes triggering the microcephaly are. In particular, the symptomatology is all the more severe, the higher the degree of severity of the condition that involves the reduction of the size of the head.
In the symptomatic picture of an individual with microcephaly, they can be included:
- Mental retardation . In general, mental retardation appears to be the most common pathological manifestation in individuals with microcephaly.
It entails various consequences, including: socialization problems, lack of integration into the social context, reduced ability to adapt, etc.
- Delay in the development of language and movement skills
- Dwarfism or short stature
- Hyperactivity
- Face distortions
- Epilepsy
- Difficulty of coordination and balance
- Other neurological abnormalities
ARE THERE INDIVIDUALS WITH NORMAL INTELLIGENCE?
The presence of microcephaly does not always coincide with mental retardation. In fact, it is possible to deal with microcephalic individuals with normal intelligence.
WHEN TO REFER TO THE DOCTOR?
If a parent suspects the presence of microcephaly, it is advisable to contact your pediatrician immediately for a more in-depth look at the situation (NB: please note that, in general, microcephaly is a disorder that can be found very early).
However, it is recalled that, usually, at birth or at the first pediatric visits, doctors find out quite easily whether a person has a smaller head than normal standards.
Diagnosis
For obvious reasons, microcephaly can only be diagnosed in prenatal age if it is of the congenital type.
In such situations, a simple prenatal ultrasound scan may suffice for its identification.
For the purposes of a complete diagnosis, which also includes the identification of the triggering causes, the information that can derive from: an evaluation of family history, a brain CT scan, a nuclear magnetic resonance (MRI) and blood tests are very important.
Importance of family history assessment
The presence, in a family, of other individuals with microcephaly could be indicative of a hereditary problem, which occurs among the relatives of one of the parents.
Thanks to the evaluation of family history, doctors can clarify this aspect, facilitating the diagnostic process.
Treatment
Except for some cases sustained by craniosynostosis, microcephaly is an incurable condition. In fact, currently, there are no treatments that allow the skull to complete its normal development.
That said, doctors can still plan a symptomatic therapy, that is aimed at improving the symptom picture.
SYMPTOMS CARE: EXAMPLES
Symptomatic treatment varies, of course, depending on the symptoms present.
For example:
- If the patient shows mental retardation and the various consequences related to it, it is good to subject him to a particular cure, known as occupational therapy.
Occupational therapy has two main objectives: the first is to favor the insertion of the patient in the social context (school, family, etc.), as soon as he begins to relate to the world; the second is to make the patient as independent as possible from others, teaching him to take care of his own person, etc.
- If the patient shows a delay in the development of language skills, there are special therapies, which allow the improvement of the above abilities.
- If the patient suffers from a balance or coordination disorder, the doctor plans a series of physiotherapy treatments for him. Indeed, there are very useful physiotherapy exercises to alleviate the aforementioned problems.
To obtain the best results, the experts advise contacting physiotherapists experienced in pathologies with neurological consequences, such as those that determine microcephaly.
- If the patient suffers from epilepsy or hyperactivity, he can take medications synthesized specifically to reduce the symptoms of the above conditions.
CARE OF THE CRANIOSINOSTOSIS
Certain cases of craniosynostosis can be resolved thanks to an ad hoc surgical procedure, which consists in the separation of the cranial fusutis early.
Surgeons can perform the operation in two different ways: through a classical surgery procedure - also called "open-air" - or through an endoscopic procedure - which has the advantage of reduced invasiveness.
SOME ADVICES
Doctors recommend that parents of children with microcephaly always turn to professionals who are experts in this particular physical anomaly and the diseases that can cause it.
Furthermore, they advise contacting support groups for families with children with microcephaly, because this can be a way to better understand the aforementioned condition and the symptomatic treatments that the latter requires.
Prognosis
The prognosis depends on the severity of the symptoms. Individuals with severe microcephaly suffer from severe disabilities (severe mental retardation, marked language problems etc.) and this strongly affects their quality of life. Conversely, subjects with mild microcephaly suffer from contained disabilities and this allows them to lead a life closer to normality (if, of course, compared to the previous cases).
Prevention
Some genetic diseases that cause microcephaly are inherited, that is, transmitted from parents to offspring.
In light of this, parents of microcephalic children can go to a genetics expert and undergo a genetic test if necessary, to see if another possible pregnancy is at risk of microcephaly. If it is, avoiding conception prevents the onset of the disease.
